PMID- 30118244
OWN - NLM
STAT- MEDLINE
DCOM- 20200211
LR  - 20200211
IS  - 0125-877X (Print)
IS  - 0125-877X (Linking)
VI  - 37
IP  - 3
DP  - 2019 Sep
TI  - A hereditary angioedema screening on an index case: Turkey.
PG  - 154-161
LID - 10.12932/AP-060218-0257 [doi]
AB  - BACKGROUND: Hereditary angioedema (HAE) is characterised by recurrent episodes of 
      angioedema and can be fatal. OBJECTIVE: The present study aimed to screen HAE. 
      METHODS: A total of 60 individuals were screened. The frequency and severity of 
      symptoms were scored from 0 to 8. Measurements were taken of C4 and C1 esterase 
      inhibitor protein (C1-INH) levels. Mutation in the C1 inhibitor gene was examined 
      in 9 patients with HAE. RESULTS: A positive correlation between the C1 esterase 
      inhibitor protein levels and C4 level was detected in the group as a whole (p < 
      0.001, r = 0.725, n = 60). Anegative correlation between the C1 esterase 
      inhibitor protein level and severity score was observed in the whole group (p < 
      0.001, r = -0.486, n = 60). A negative correlation was also detected in the 
      entire group between the C4 level and severity score (p = 0.002, r = -0.389, n = 
      60). In the patients with HAE, a positive correlation between the C1 esterase 
      inhibitor protein level and C4 levels was detected (p = 0.034, r = 0.705, n = 9). 
      A heterozygous c. 601A > T nonsense variant was identified at the C1 esterase 
      inhibitor gene-SERPING1-in patients with Type 1 HAE. CONCLUSION: It is well known 
      that there is a prolonged delay in the diagnosis of HAE. The present study 
      demonstrates that it is very important and even life-saving to screen for HAE on 
      the basis of an index case.
FAU - Ozkars, Mehmet Yasar
AU  - Ozkars MY
AD  - Department of Pediatric Allergy and Immunology, KahramanmarasSutcu Imam 
      University Faculty of Medicine, Kahramanmaras, Turkey.
FAU - Keskin, Ozlem
AU  - Keskin O
AD  - Department of Pediatric Allergy and Immunology, Gaziantep University School of 
      Medicine, Gaziantep, Turkey.
FAU - Bayram, Nazan
AU  - Bayram N
AD  - Department of Pulmonology, Gaziantep University School of Medicine, Gaziantep, 
      Turkey.
FAU - Keskin, Mehmet
AU  - Keskin M
AD  - Department of Pediatrics, Gaziantep University School of Medicine, Gaziantep, 
      Turkey.
FAU - Bayram, Hasan
AU  - Bayram H
AD  - Department of Pulmonology, Gaziantep University School of Medicine, Gaziantep, 
      Turkey.
FAU - Sahin, Yavuz
AU  - Sahin Y
AD  - Department of Medical Genetics, NecipFazil City Hospital, Kahramanmaras, Turkey.
FAU - Kucukosmanoglu, Ercan
AU  - Kucukosmanoglu E
AD  - Department of Pediatric Allergy and Immunology, Gaziantep University School of 
      Medicine, Gaziantep, Turkey.
FAU - Attila, Nurhan
AU  - Attila N
AD  - Department of Pulmonology, KahramanmarasSutcu Imam University School of Medicine, 
      Kahramanmaras, Turkey.
FAU - Kirik, Serkan Kirik
AU  - Kirik SK
AD  - Department of Pediatric Neurology, KahramanmarasSutcu Imam University Faculty of 
      Medicine, Kahramanmaras, Turkey.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Thailand
TA  - Asian Pac J Allergy Immunol
JT  - Asian Pacific journal of allergy and immunology
JID - 8402034
RN  - 0 (Complement C1 Inhibitor Protein)
RN  - 0 (Complement C4)
RN  - 0 (SERPING1 protein, human)
SB  - IM
EIN - Asian Pac J Allergy Immunol. 2020 Sep;38(3):214. PMID: 32990449
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Angioedemas, Hereditary/*diagnosis/*genetics/metabolism
MH  - Child
MH  - Child, Preschool
MH  - Complement C1 Inhibitor Protein/genetics/metabolism
MH  - Complement C4/genetics/metabolism
MH  - DNA Mutational Analysis
MH  - Female
MH  - *Genetic Testing
MH  - Humans
MH  - Infant
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Pedigree
MH  - Phenotype
MH  - Young Adult
EDAT- 2018/08/18 06:00
MHDA- 2020/02/12 06:00
CRDT- 2018/08/18 06:00
PHST- 2018/08/18 06:00 [pubmed]
PHST- 2020/02/12 06:00 [medline]
PHST- 2018/08/18 06:00 [entrez]
AID - 10.12932/AP-060218-0257 [doi]
PST - ppublish
SO  - Asian Pac J Allergy Immunol. 2019 Sep;37(3):154-161. doi: 
      10.12932/AP-060218-0257.